完善非综合征性口颌面裂的遗传和基因组结构-猫眼课题宝

完善非综合征性口颌面裂的遗传和基因组结构

批准号：

9883613

负责人：

Azeez Butali

金额：

$69.68万

依托单位：

UNIVERSITY OF IOWA

依托单位国家：

美国

项目类别：

财政年份：

2020

资助国家：

美国

项目状态：

未结题

起止时间：

2020-02-01 至 2025-01-31

来源：

https://reporter.nih.gov/project-details/9883613

关键词：

Adult Affect Affinity Africa Africa South of the Sahara African Alkanesulfonates Alleles Architecture Asians Bilateral Binding Biological Birth Canada Candidate Disease Gene Caring Cell Line Cells Child Chromatin Cleft Palate Cleft lip with or without cleft palate Code Collaborations Craniofacial Abnormalities Data Disease Embryo Embryonic Development Engineering Enhancers Environmental Risk Factor Enzymes Ethanol Etiology Europe European Family Folic Acid Gene Frequency Genes Genetic Genetic Risk Genetic study Genomics Genotype Goals HepG2 Hepatocyte Immigration Individual Infant Infrastructure Iowa Knowledge Lead Link Liver MSX1 gene Measures Medical Meta-Analysis Metabolism Minor Modification Mutation National Human Genome Research Institute Nigerian Outcome Parents Pathogenesis Pathway interactions Patients Persons Phenotype Population Predictive Factor Prevention Publishing Reporter Reporting Research Risk Role Single Nucleotide Polymorphism Societies Specificity Steroids Testing Tissues Translating Triad Acrylic Resin United States Universities Untranslated RNA Variant Vitamin D Work Zebrafish base cell type chromatin immunoprecipitation cleft lip and palate clinical practice cost craniofacial development de novo mutation design effective intervention genetic variant genome sequencing genome wide association study genome-wide genome-wide analysis high risk in vitro Assay insight novel orofacial cleft proband promoter psychologic rare variant risk variant transcription factor whole genome

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中文摘要

翻译

项目摘要这项研究的重点是确定有意义的遗传和基因组因素，预测裂非洲人口家庭的结果，将研究结果转化为其他人口，设计减少CLP后果和预防的策略。我们计划复制 1000例CL/P病例、400例CP和2000例对照中的非洲GWAS显著位点，通过基因分型172 单核苷酸多态性我们还计划进行300个基因组测序，三联体（双侧完全性唇腭裂先证者），并分析全基因组 150个CL/P三联体的测序（WGS）数据。最后，我们计划确定函数 GWAS非编码变体的后果，通过系统地测试具有最强疾病协会。这项研究将由爱荷华州大学的Butali博士领导，与爱荷华州大学的康奈尔博士、默里博士和曹博士，NHGRI的Adeyemo博士，约翰霍普金斯大学的陶博博士。

英文摘要

PROJECT SUMMARY The focus of this study is to identify meaningful genetic and genomic factors that predict cleft outcomes in families in the African population, translate findings to other populations in order to design strategies towards reducing the outcome and prevention of CLP. We plan to replicate African GWAS significant loci in 1000 CL/P cases, 400 CP and 2000 controls by genotyping 172 single nucleotide polymorphisms. We also plan to conduct whole genome sequencing of 300 triads (proband with bilateral complete cleft lip and palate) and analyses whole genome sequencing (WGS) data of 150 CL/P triads. Finally, we plan to determine the functional consequences of GWAS non-coding variants by systematically testing SNPs with strongest disease association. This study will be led by Dr Butali at the University of Iowa in collaboration with Dr Cornell, Dr Murray and Dr Cao at the University of Iowa, Dr Adeyemo at the NHGRI and Dr Taub at the John Hopkins University.

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